{{Rsnum
|rsid=397518022
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=USH2A
|position=216072887
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000041870.1
|CLNALLE=1
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
|CLNHGVS=NC_000001.11:g.216072887A>G
|CLNSIG=5
|Disease=Retinitis pigmentosa-deafness syndrome
|FwdALT=C
|FwdREF=T
|GENEINFO=LOC102723833:102723833; USH2A:7399
|GENE_ID=102723833; 7399
|GENE_NAME=LOC102723833; USH2A
|REF=A
|RSPOS=216072887
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;DSS;INT;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060180005000002110100
|WGT=1
|dbSNPBuildID=138
|rsid=397518022
|CLNORIGIN=1
|CLNSRC=ClinVar
|CLNSRCID=NM_206933.2:c.5857+2T>C
}}